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Niemann-Pick Disease, Type C

Go to external page http://purl.bioontology.org/ontology/MESH/D052556

An autosomal recessive lipid storage disorder that is characterized by accumulation of CHOLESTEROL and SPHINGOMYELINS in cells of the VISCERA and the CENTRAL NERVOUS SYSTEM. Type C (or C1) and type D are allelic disorders caused by mutation of the NPC1 gene, which encodes a protein that mediates intracellular cholesterol transport from LYSOSOMES. Clinical signs include hepatosplenomegaly and chronic neurological symptoms. Type D is a variant in people with a Nova Scotia ancestry.

Term info

Label

Niemann-Pick Disease, Type C

Synonyms
  • Morbus Niemann-Pick Typ C (DE)
  • Morbus Niemann-Pick Typ D (DE)
  • Neurovisceral Storage Disease with Vertical Supranuclear Ophthalmoplegia
  • Neuroviszerale Speicherkrankheit mit vertikaler supranukleärer Ophthalmoplegie (DE)
  • Niemann Pick Disease Type D
  • Niemann Pick Disease with Cholesterol Esterification Block
  • Niemann Pick Disease without Sphingomyelinase Deficiency
  • Niemann Pick Disease, Chronic Neuronopathic Form
  • Niemann Pick Disease, Nova Scotian
  • Niemann Pick Disease, Type C
  • Niemann Pick Disease, Type C1
  • Niemann Pick Disease, Type D
  • Niemann Pick disease, Subacute Juvenile Form
  • Niemann Pick's Disease Type C
  • Niemann Pick's Disease Type D
  • Niemann-Pick Disease Type D
  • Niemann-Pick Disease with Cholesterol Esterification Block
  • Niemann-Pick Disease without Sphingomyelinase Deficiency
  • Niemann-Pick Disease, Chronic Neuronopathic Form
  • Niemann-Pick Disease, Nova Scotian
  • Niemann-Pick Disease, Type C1
  • Niemann-Pick Disease, Type D
  • Niemann-Pick Typ C (DE)
  • Niemann-Pick Typ D (DE)
  • Niemann-Pick disease, Subacute Juvenile Form
  • Niemann-Pick's Disease Type C
  • Niemann-Pick's Disease Type D
  • Niemann-Pick-Krankheit Typ C (DE)
  • Niemann-Pick-Krankheit Typ D (DE)
  • Niemann-Pick-Krankheit, chronische neuropathische Form (DE)
  • Nova Scotia (Type D) Form of Niemann-Pick Disease
  • Nova Scotia Niemann Pick Disease (Type D)
  • Nova Scotia Niemann-Pick Disease (Type D)
AQL

BL CF CI CL CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SU TH UR VE VI

DC

1

DX

20070101

HN

2007; use NIEMANN-PICK DISEASES 2000-2006

MDA

20060705

MMR

20180228

MN

C10.228.140.163.100.435.825.700.875, C15.604.250.410.625.875, C18.452.584.687.803.730.875, C16.320.565.189.435.825.700.875, C18.452.648.595.554.825.700.875, C18.452.132.100.435.825.700.875, C18.452.648.398.641.803.730.875, C18.452.648.189.435.825.700.875, C16.320.565.398.641.803.730.875, C16.320.565.595.554.825.700.875

PM

2007; see NIEMANN-PICK DISEASES 2000-2006

QB

http://purl.bioontology.org/ontology/MESH/Q000175, http://purl.bioontology.org/ontology/MESH/Q000097, http://purl.bioontology.org/ontology/MESH/Q000196, http://purl.bioontology.org/ontology/MESH/Q000150, http://purl.bioontology.org/ontology/MESH/Q000191, http://purl.bioontology.org/ontology/MESH/Q000139, http://purl.bioontology.org/ontology/MESH/Q000534, http://purl.bioontology.org/ontology/MESH/Q000235, http://purl.bioontology.org/ontology/MESH/Q000378, http://purl.bioontology.org/ontology/MESH/Q000532, http://purl.bioontology.org/ontology/MESH/Q000652, http://purl.bioontology.org/ontology/MESH/Q000134, http://purl.bioontology.org/ontology/MESH/Q000178, http://purl.bioontology.org/ontology/MESH/Q000453, http://purl.bioontology.org/ontology/MESH/Q000276, http://purl.bioontology.org/ontology/MESH/Q000451, http://purl.bioontology.org/ontology/MESH/Q000473, http://purl.bioontology.org/ontology/MESH/Q000000981, http://purl.bioontology.org/ontology/MESH/Q000517, http://purl.bioontology.org/ontology/MESH/Q000382, http://purl.bioontology.org/ontology/MESH/Q000469, http://purl.bioontology.org/ontology/MESH/Q000821, http://purl.bioontology.org/ontology/MESH/Q000601, http://purl.bioontology.org/ontology/MESH/Q000523, http://purl.bioontology.org/ontology/MESH/Q000401, http://purl.bioontology.org/ontology/MESH/Q000201, http://purl.bioontology.org/ontology/MESH/Q000662, http://purl.bioontology.org/ontology/MESH/Q000266, http://purl.bioontology.org/ontology/MESH/Q000145, http://purl.bioontology.org/ontology/MESH/Q000188, http://purl.bioontology.org/ontology/MESH/Q000628, http://purl.bioontology.org/ontology/MESH/Q000209, http://purl.bioontology.org/ontology/MESH/Q000208, http://purl.bioontology.org/ontology/MESH/Q000503

SIB

http://purl.bioontology.org/ontology/MESH/D052537, http://purl.bioontology.org/ontology/MESH/D052536

TERMUI

T751075, T647761, T647760, T781822, T647759, T647758, T647724, T369752, T369753, T751078, T751077, T751076, T369747, T369748

TH

NLM (2007), ORD (2010), OMIM (2013), NLM (2000), NLM (2010), NLM (2012)

cui

C0268247, C0220756, C3179455

hasSTY

http://purl.bioontology.org/ontology/STY/T047

mapped from

http://purl.bioontology.org/ontology/MESH/C536119, http://purl.bioontology.org/ontology/MESH/C564941

tui

T047

Term relations

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